Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs45430
rs45430
MX2
1 1.000 0.040 21 41374154 intron variant C/T snv 0.48 0.820 1.000 4 2011 2019
dbSNP: rs1057519733
rs1057519733
MAP2K1
1 1.000 0.040 15 66481793 missense variant G/A snv 0.700 1.000 3 2009 2013
dbSNP: rs121913248
rs121913248
NRAS
1 1.000 0.040 1 114716109 missense variant C/G;T snv 4.0E-06 0.710 1.000 3 2001 2014
dbSNP: rs1057519703
rs1057519703
KIT
1 1.000 0.040 4 54727418 missense variant A/C;T snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519705
rs1057519705
KIT
1 1.000 0.040 4 54727464 missense variant A/G snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519706
rs1057519706
KIT
1 1.000 0.040 4 54727474 missense variant T/G snv 0.700 1.000 2 2014 2014
dbSNP: rs1057519734
rs1057519734
MAP2K1
1 1.000 0.040 15 66485086 missense variant C/T snv 0.700 1.000 2 2011 2012
dbSNP: rs1057519807
rs1057519807
MAP2K2
1 1.000 0.040 19 4110586 missense variant A/T snv 0.710 1.000 2 2014 2014
dbSNP: rs11551405
rs11551405
DCP1A ; LOC107986087
1 1.000 0.040 3 53284850 3 prime UTR variant C/A snv 0.16 0.020 1.000 2 2016 2018
dbSNP: rs121913363
rs121913363
BRAF
1 1.000 0.040 7 140753361 missense variant T/C snv 0.700 1.000 2 2014 2015
dbSNP: rs1278609613
rs1278609613
EDNRA
1 1.000 0.040 4 147542604 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 8.0E-06 0.020 1.000 2 2009 2018
dbSNP: rs1335510
rs1335510
LOC107987026
1 1.000 0.040 9 21757804 intergenic variant T/G snv 0.32 0.710 1.000 2 2012 2015
dbSNP: rs1382979668
rs1382979668
USP28
1 1.000 0.040 11 113809254 missense variant T/A snv 4.0E-06 0.020 1.000 2 2016 2018
dbSNP: rs17119461
rs17119461
LINC02627
1 1.000 0.040 10 105756594 intergenic variant T/C snv 7.7E-02 0.810 1.000 2 2012 2014
dbSNP: rs17305657
rs17305657
BPIFA3
1 1.000 0.040 20 33218782 intron variant T/C snv 5.2E-02 0.700 1.000 2 2008 2011
dbSNP: rs3219090
rs3219090
PARP1
1 1.000 0.040 1 226376990 intron variant T/C snv 0.58 0.820 1.000 2 2011 2013
dbSNP: rs7412746
rs7412746
CTXND2
1 1.000 0.040 1 150887995 intron variant C/T snv 0.41 0.800 1.000 2 2011 2017
dbSNP: rs764323487
rs764323487
OCA2
1 1.000 0.040 15 27986635 missense variant T/A snv 0.020 1.000 2 2008 2008
dbSNP: rs773962041
rs773962041
SSTR4
1 1.000 0.040 20 23036363 missense variant C/G snv 1.6E-05 0.020 1.000 2 2009 2018
dbSNP: rs1015363
rs1015363 		1 1.000 0.040 20 34150529 intergenic variant G/A snv 0.69 0.010 1.000 1 2013 2013
dbSNP: rs10231520
rs10231520
ABCB5
1 1.000 0.040 7 20742471 intron variant C/T snv 0.29 0.010 1.000 1 2013 2013
dbSNP: rs10515789
rs10515789
EBF1
1 1.000 0.040 5 159079407 intron variant T/G snv 0.11 0.010 1.000 1 2015 2015
dbSNP: rs1051849
rs1051849
DUSP14
1 1.000 0.040 17 37513222 3 prime UTR variant T/C snv 9.9E-02 0.010 < 0.001 1 2013 2013
dbSNP: rs1057519735
rs1057519735
MAP2K1 ; SNAPC5
1 1.000 0.040 15 66490577 missense variant A/C snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519809
rs1057519809
MAP2K2
1 1.000 0.040 19 4117586 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2014 2014